Variant position: 167 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 379 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LIAQLVLTTILEIFITGTFL AKIARPKKRAETIRFSQHAVV
Mouse LIAQLVLTTILEIFITGTFL AKIARPKKRAETIRFSQHAVV
Rat LIAQLVLTTILEIFITGTFL AKIARPKKRAETIRFSQHAVV
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 379 ATP-sensitive inward rectifier potassium channel 10
165 – 379 Cytoplasmic
158 – 158 Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium
Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.
Tanemoto M.; Abe T.; Uchida S.; Kawahara K.;
FEBS Lett. 588:899-905(2014)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS SESAMES PRO-65; ARG-77; ARG-140; ILE-164; VAL-167 AND CYS-297; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH KCNJ16 AND MAGI1;
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
Scholl U.I.; Choi M.; Liu T.; Ramaekers V.T.; Hausler M.G.; Grimmer J.; Tobe S.W.; Farhi A.; Nelson-Williams C.; Lifton R.P.;
Proc. Natl. Acad. Sci. U.S.A. 106:5842-5847(2009)
Cited for: VARIANTS SESAMES PRO-65; ARG-140; ILE-164; VAL-167 AND CYS-297;
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